Term Name: centronuclear myopathy 6 with fiber-type disproportion
Synonyms: CNM6
Definition: An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1.
Ontology: Human Disease [DOID:0111221]   ( DOID:0111221 )

Relationships
is a type of: autosomal recessive centronuclear myopathy